A new UHPLC-MS/MS method for the screening of urinary oligosaccharides expands the detection of storage disorders.

ABSTRACT:

Background

Oligosaccharidoses are storage disorders due to enzymatic defects involved in the breakdown of the oligosaccharidic component of glycosylated proteins. The defect cause the accumulation of oligosaccharides (OS) and, depending on the lacking enzyme, results in characteristic profiles which are helpful for the diagnosis. We developed a new tandem mass spectrometry method for the screening of urinary OS which was applied to identify a large panel of storage disorders.

Methods

The method was set-up in urine and dried urine spots (DUS). Samples were analysed, without derivatization and using maltoheptaose as internal standard, by UHPLC-MS/MS with MRM acquisition of target OS transitions, including Glc4, the biomarker of Pompe disease. The chromatographic run was < 30 m

SUBMITTER: Semeraro M 

PROVIDER: S-EPMC7796585 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature